Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder
Piccolo, Gianluca, Amadori, Elisabetta, Vari, Maria Stella, Marchese, Francesca, Riva, Antonella, Ghirotto, Valentina, Iacomino, Michele, Salpietro, Vincenzo, Zara, Federico, Striano, PasqualeJournal:
Journal of Pediatric Genetics
DOI:
10.1055/s-0040-1713159
Date:
July, 2020
File:
PDF, 2.13 MB
2020